CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review

American Journal of Medical Genetics, Part A

Volumn 155, Issue 3, 2011, Pages 605-611

  Papadopoulou, Eleftheria ^a   Sifakis, Stavros ^a   Sol Church, Katia ^b   Klein Zighelboim, Eva ^c   Stabley, Deborah L ^b   Raissaki, Maria ^a   Gripp, Karen W ^b   Kalmanti, Maria ^a  

^a UNIVERSITY HOSPITAL OF HERAKLION   (Greece)

^b NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^c INSTITUTO NACIONAL DE SALUD DEL NIÑO   (Peru)

Author keywords

Allele specific amplification; BRAF; Cardio facio cutaneous syndrome; Corpus callosum abnormalities; Corpus callosum hypoplasia; Lipoma of corpus callosum; MEK1; MEK2; Structural brain anomalies

Indexed keywords

ANAMNESIS; ARTICLE; BODY HEIGHT; BODY WEIGHT; BRAIN ATROPHY; BRAIN LIPOMA; BRAIN VENTRICLE DILATATION; CARDIOFACIOCUTANEOUS SYNDROME; CASE REPORT; CHILD; CORPUS CALLOSUM AGENESIS; ECHOGRAPHY; FACE DYSMORPHIA; FAILURE TO THRIVE; FINGER MALFORMATION; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HUMAN; HYDROCEPHALUS; ICHTHYOSIS; IMAGE ANALYSIS; INTELLECTUAL IMPAIRMENT; KIDNEY CYST; LEUKOENCEPHALOPATHY; LIPOMA; LIVER CYST; MALE; MALFORMATION SYNDROME; MUSCLE HYPOTONIA; MYELINATION; MYOPIA; NEUROIMAGING; NOSE MALFORMATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SKIN MALFORMATION; STRABISMUS; SUCKING;

BASE SEQUENCE; BRAIN; CENTRAL NERVOUS SYSTEM; CHILD; CHILD, PRESCHOOL; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; GERM-LINE MUTATION; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MAP KINASE KINASE 1; MOLECULAR SEQUENCE DATA; PARENTS; PREGNANCY;

EID: 79951999973     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33787     Document Type: Article

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